Systematic Reviews
Copyright ©The Author(s) 2016. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Surg. Mar 27, 2016; 8(3): 252-265
Published online Mar 27, 2016. doi: 10.4240/wjgs.v8.i3.252
Primary squamous cell carcinoma of the rectum: An update and implications for treatment
Glen R Guerra, Cherng H Kong, Satish K Warrier, Andrew C Lynch, Alexander G Heriot, Samuel Y Ngan
Glen R Guerra, Cherng H Kong, Satish K Warrier, Andrew C Lynch, Alexander G Heriot, Division of Cancer Surgery, Sir Peter MacCallum Cancer Centre, University of Melbourne, East Melbourne, Victoria 3002, Australia
Samuel Y Ngan, Division of Radiation Oncology, Sir Peter MacCallum Cancer Centre, University of Melbourne, East Melbourne, Victoria 3002, Australia
Author contributions: Guerra GR prepared the manuscript with all co-authors contributing to the drafting and revision process; including review of the final version, with which they are in agreement of its content.
Conflict-of-interest statement: The authors declare no conflict of interest.
Data sharing statement: No additional data is available.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
Correspondence to: Dr. Glen R Guerra, MBBS, FRACS, Colorectal Research Fellow, Division of Cancer Surgery, Sir Peter MacCallum Cancer Centre, University of Melbourne, St Andrews Place, East Melbourne, Victoria 3002, Australia.
Telephone: +61-3-96561111 Fax: +61-3-96548457
Received: June 29, 2015
Peer-review started: July 2, 2015
First decision: August 25, 2015
Revised: December 24, 2015
Accepted: January 21, 2016
Article in press: January 22, 2016
Published online: March 27, 2016

AIM: To provide an update on the aetiology, pathogenesis, diagnosis, staging and management of rectal squamous cell carcinoma (SCC).

METHODS: A systematic review was conducted according to the preferred reporting items for Systematic Reviews and Meta-Analyses guidelines. A comprehensive search of Ovid MEDLINE was performed with the reference list of selected articles reviewed to ensure all relevant publications were captured. The search strategy was limited to the English language, spanning from 1946 to 2015. A qualitative analysis was undertaken examining patient demographics, clinical presentation, diagnosis, staging, treatment and outcome. The quantitaive analysis was limited to data extracted on treatment and outcomes including radiological, clinical and pathological complete response where available. The narrative and quantitative review were synthesised in concert.

RESULTS: The search identified 487 articles in total with 79 included in the qualitative review. The quantitative analysis involved 63 articles, consisting of 43 case reports and 20 case series with a total of 142 individual cases. The underlying pathogenesis of rectal SCC while unclear, continues to be defined, with increasing evidence of a metaplasia-dysplasia-carcinoma sequence and a possible role for human papilloma virus in this progression. The presentation is similar to rectal adenocarcinoma, with a diagnosis confirmed by endoscopic biopsy. Many presumed rectal SCC’s are in fact an extension of an anal SCC, and cytokeratin markers are a useful adjunct in this distinction. Staging is most accurately reflected by the tumour-node-metastasis classification for rectal adenocarcinoma. It involves examining locoregional disease by way of magnetic resonance imaging and/or endorectal ultrasound, with systemic spread excluded by way of computed tomography. Positron emission tomography is integral in the workup to exclude an external site of primary SCC with metastasis to the rectum. While the optimal treatment remains as yet undefined, recent studies have demonstrated a global shift away from surgery towards definitive chemoradiotherapy as primary treatment. Pooled overall survival was calculated to be 86% in patients managed with chemoradiation compared with 48% for those treated traditionally with surgery. Furthermore, local recurrence and metastatic rates were 25% vs 10% and 30% vs 13% for the chemoradiation vs conventional treatment cohorts.

CONCLUSION: The changing paradigm in the treatment of rectal SCC holds great promise for improved outcomes in this rare disease.

Keywords: Squamous cell carcinoma, Rectal cancer, Chemoradiotherapy, Surgery, Complete response

Core tip: Primary squamous cell carcinoma (SCC) of the rectum is a rare entity with a historically poor prognosis. This systematic review provides an in depth summary of the current body of knowledge surrounding the aetiology, pathogenesis, diagnosis, staging and prognosis of this disease. Given the current paradigm shift in the first line treatment of rectal SCC away from traditional surgical management towards definitive chemoradiotherapy, the evidence supporting this change is examined.